Evidence Repository - Clinical Genome Resources

The ClinGen Evidence Repository is an FDA-recognized human genetic variant database containing expert-curated assertions regarding variants' pathogenicity and supporting evidence summaries. [Disclaimer]

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Variant: NM_005343.3(HRAS):c.257A>C (p.Asn86Thr)

CA180888

40437 (ClinVar)

Gene: LRRC56

Condition: RASopathy

Inheritance Mode: Autosomal dominant inheritance

Link to MONDO

UUID: 7a67f8eb-da68-4c6b-9d98-ee169176af3c

HGVS expressions

NM_005343.3:c.257A>C

NM_005343.3(HRAS):c.257A>C (p.Asn86Thr)

NM_001130442.1:c.257A>C

NM_005343.2:c.257A>C

NM_176795.3:c.257A>C

NM_001130442.2:c.257A>C

NM_001318054.1:c.-63A>C

NM_176795.4:c.257A>C

NM_005343.4:c.257A>C

ENST00000311189.7:c.257A>C

ENST00000397594.5:c.257A>C

ENST00000397596.6:c.257A>C

ENST00000417302.5:c.257A>C

ENST00000451590.5:c.257A>C

ENST00000468682.2:n.745A>C

ENST00000479482.1:n.178A>C

ENST00000493230.5:c.257A>C

NC_000011.10:g.533799T>G

CM000673.2:g.533799T>G

NC_000011.9:g.533799T>G

CM000673.1:g.533799T>G

NC_000011.8:g.523799T>G

NG_007666.1:g.6752A>C

Benign

BP5 BA1

Evidence Links 0

Expert Panel

RASopathy VCEP

Criteria Specification Information

Criteria Specifications for this VCEP

Evidence submitted by expert panel

RASopathy VCEP

The filtering allele frequency of the c.257A>C (p.Asn86Thr) variant in the HRAS gene is 0.07% for African chromosomes by the Exome Aggregation Consortium (12/10342 with 95% CI), which is a high enough frequency to be classified as benign based on thresholds defined by the ClinGen RASopathy Expert panel for autosomal dominant RASopathy variants (BA1).This variant has been identified in a patient with an alternate molecular basis for disease (BP5; Partners LMM, GeneDx internal data GTR ID: 21766, 26957 ClinVar SCV000204177.4; SCV000207861.7). In summary, this variant meets criteria to be classified as benign. ACMG/AMP criteria applied: BA1, BP5.

BP5

This variant has been identified in a patient with an alternate molecular basis for disease (BP5; Partners LMM, GeneDx internal data GTR ID: 21766, 26957 ClinVar SCV000204177.4; SCV000207861.7).

BA1

The allele frequency of the c.257A>C (p.Asn86Thr) variant in the HRAS gene is 0.075% (18/23998) of African chromosomes by the Exome Aggregation Consortium (http://exac.broadinstitute.org), which is a high enough frequency to be classified as benign based on thresholds defined by the ClinGen RASopathy Expert Panel for autosomal dominant RASopathy variants (BA1).

Approved on: 2017-04-03

Published on: 2018-12-10

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